GenTIGS

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by inheritance mode

S.No.	Genetic Disorders Modes of inheritance	Category	Gene symbol	Indian context	Links
11	Alagille syndrome Autosomal dominant	Liver disorders	JAG1 jagged canonical Notch ligand 1 NOTCH2 notch receptor 2	Reports Updated as of Sep 15, 2022	PubMed
12	alpha Thalassemia Autosomal recessive	Blood disorders	ATRX ATRX chromatin remodeler HBA2 hemoglobin subunit alpha 2 HBA1 hemoglobin subunit alpha 1	Reports Updated as of Nov 10, 2023	PubMed
13	Alpha thalassemia-X-linked intellectual disability syndrome X-linked dominant	Multisystemic disorders	ATRX ATRX chromatin remodeler GBA1 glucosylceramidase beta 1	Reports Updated as of Nov 12, 2025	PubMed
14	Alport syndrome Autosomal dominant, Autosomal recessive, X-linked recessive	Nephrological disorders	COL4A5 collagen type IV alpha 5 chain COL4A4 collagen type IV alpha 4 chain COL4A3 collagen type IV alpha 3 chain	Reports Updated as of Feb 20, 2024	PubMed
15	Amyloidosis	Metabolic disorders	OSMR oncostatin M receptor TTR transthyretin APOA1 apolipoprotein A1 IL31RA interleukin 31 receptor A GPNMB glycoprotein nmb	Reports Updated as of Sep 15, 2022	PubMed
16	Amyotrophic lateral sclerosis Autosomal dominant, Autosomal recessive	Neuromuscular disorders	FIG4 FIG4 phosphoinositide 5-phosphatase SETX senataxin ALS2 alsin Rho guanine nucleotide exchange factor ALS2 VAPB VAMP associated protein B and C TRPM7 transient receptor potential cation channel subfamily M member 7 TARDBP TAR DNA binding protein OPTN optineurin DCTN1 dynactin subunit 1 PRPH peripherin MATR3 matrin 3 SOD1 superoxide dismutase 1 FUS FUS RNA binding protein ANG angiogenin UBQLN2 ubiquilin 2 SIGMAR1 sigma non-opioid intracellular receptor 1 PFN1 profilin 1 HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 TUBA4A tubulin alpha 4a NEK1 NIMA related kinase 1 ANXA11 annexin A11 KIF5A kinesin family member 5A SPG11 SPG11 vesicle trafficking associated, spatacsin ERBB4 erb-b2 receptor tyrosine kinase 4 PARK7 Parkinsonism associated deglycase DAO D-amino acid oxidase CHRNA3 cholinergic receptor nicotinic alpha 3 subunit SS18L1 SS18L1 subunit of BAF chromatin remodeling complex EWSR1 EWS RNA binding protein 1 NEFH neurofilament heavy chain VCP valosin containing protein TIA1 TIA1 cytotoxic granule associated RNA binding protein SPTLC1 serine palmitoyltransferase long chain base subunit 1 C9orf72 C9orf72-SMCR8 complex subunit UNC13A unc-13 homolog A	Reports Updated as of Mar 09, 2023	PubMed
17	Angelman syndrome Autosomal dominant	Neurodevelopmental disorders	UBE3A ubiquitin protein ligase E3A MECP2 methyl-CpG binding protein 2 CDKL5 cyclin dependent kinase like 5 HIVEP2 HIVEP zinc finger 2 GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3	Reports Updated as of Sep 15, 2022	PubMed
18	Arrhythmogenic right ventricular dysplasia 2 Autosomal dominant, Autosomal recessive	Cardiovascular disorders	RYR2 ryanodine receptor 2 TNNI3K TNNI3 interacting kinase	Reports Updated as of Feb 01, 2025	PubMed
19	Arthrogryposis multiplex congenita Autosomal dominant, Autosomal recessive, X-linked dominant	Neuromuscular disorders	SYNE1 spectrin repeat containing nuclear envelope protein 1 NEB nebulin ADGRG6 adhesion G protein-coupled receptor G6 TNNI2 troponin I2, fast skeletal type TNNT3 troponin T3, fast skeletal type TPM2 tropomyosin 2 MYH3 myosin heavy chain 3 LGI4 leucine rich repeat LGI family member 4 RYR1 ryanodine receptor 1 ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 VPS13D vacuolar protein sorting 13 homolog D ACTA1 actin alpha 1, skeletal muscle CHRND cholinergic receptor nicotinic delta subunit CHRNG cholinergic receptor nicotinic gamma subunit BLTP1 bridge-like lipid transfer protein family member 1 ALDH5A1 aldehyde dehydrogenase 5 family member A1 ASAH1 N-acylsphingosine amidohydrolase 1 RAPSN receptor associated protein of the synapse SCN8A sodium voltage-gated channel alpha subunit 8 NALCN sodium leak channel, non-selective DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ADSS1 adenylosuccinate synthase 1 EARS2 glutamyl-tRNA synthetase 2, mitochondrial CNTNAP1 contactin associated protein 1 SCN4A sodium voltage-gated channel alpha subunit 4 PIEZO2 piezo type mechanosensitive ion channel component 2 ATP2B3 ATPase plasma membrane Ca2+ transporting 3 SCYL2 SCY1 like pseudokinase 2 TOR1A torsin family 1 member A SENP7 SUMO specific peptidase 7	Reports Updated as of Mar 09, 2023	PubMed
20	Asphyxiating thoracic dystrophy 3 Autosomal recessive	Bone disorders	DYNC2H1 dynein cytoplasmic 2 heavy chain 1 NEK1 NIMA related kinase 1 DYNLT2B dynein light chain Tctex-type 2B BBS10 Bardet-Biedl syndrome 10 TMEM256 transmembrane protein 256 FAM98C family with sequence similarity 98 member C DYNC2I1 dynein 2 intermediate chain 1 DYNC2I2 dynein 2 intermediate chain 2 KIF24 kinesin family member 24	Reports Updated as of Feb 01, 2025	PubMed

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